You are reviewing a 17-year-old girl who has been transferred from the paediatric service. She had pulmonary stenosis treated in infancy. She has learning difficulties and facial dysmorphism.
Which one of the following is not in the differential diagnosis?a. Holt–Oram syndrome
Holt–Oram syndrome causes septal defects, AV node disease, and radial ray abnormalities, but not pulmonary stenosis. In addition, it is not associated with learning difficulties.